C0027832[trait identifier] AND "Color Diagnostics, LLC DBA Color Healt - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262995	NM_000268.4(NF2):c.465C>T (p.Pro155=)	NF2	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 341068	NM_000268.4(NF2):c.600-13G>A	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GConflicting classifications of pathogenicity
Select item 341070	NM_000268.4(NF2):c.886-15C>T	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2	GBenign/Likely benign
Select item 457931	NM_000268.4(NF2):c.912T>C (p.His304=)	NF2	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 457886	NM_000268.4(NF2):c.1000-4G>A	NF2	Single nucleotide variant (intron variant)	Neurofibromatosis, type 2 +1 more	GLikely benign
Select item 237613	NM_000268.4(NF2):c.1113C>T (p.Asn371=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2 +2 more	GBenign/Likely benign
Select item 457892	NM_000268.4(NF2):c.1273C>T (p.Leu425=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1714426	NM_000268.4(NF2):c.1379A>G (p.Glu460Gly)	NF2 (E282G +8 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 417144	NM_000268.4(NF2):c.1392G>A (p.Ala464=)	NF2	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 341073	NM_000268.4(NF2):c.1439C>T (p.Thr480Met)	NF2 (T480M +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 201125	NM_000268.4(NF2):c.1540A>G (p.Met514Val)	NF2 (M514V +3 more)	Single nucleotide variant (missense variant +2 more)	NF2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 134897	NM_000268.4(NF2):c.1753G>A (p.Ala585Thr)	NF2 (A585T +1 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2 +1 more	GLikely benign
Select item 341075	NM_000268.4(NF2):c.*4G>A	NF2	Single nucleotide variant (3 prime UTR variant +1 more)	Neurofibromatosis, type 2 +3 more	GBenign/Likely benign